D1370V Summary
SCN5A D1370V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1370V is not present in gnomAD. D1370V has been functionally characterized in 0 papers. Other variants at the same resdue are D1370A .D1370E .D1370E .D1370G .D1370H .D1370N .D1370V .D1370Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D1370V Predictions
PROVEAN scores less than -2 are considered deleterious. REVEL scores higher than 0.5 or 0.75 is considered likely pathogenic (higher sensitivity with the former cutoff, higher specificity with the latter cutoff). A PolyPhen-2 score of 0.85 or greater is considered likely pathogenic. PAM scores reflect the chemistry difference between WT and variant amino acid (more negative being greater difference between the two). BLAST-PSSM reflects the evolutionary conservation of residue substitutions, more negative numbers indicate fewer observations of the specific substitution than is expected.
SIFT |
Sift Score |
PROVEAN Score |
Polyphen2 |
Polyphen2 Score |
eaRate |
blastPssm |
pamScore |
REVEL |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
0.672 |
D1370V has 30 neighbors within 15 ångströms that have been found in individuals.
A residue within a folded protein on average has nearest neighbors that fall roughly into two shells: a "nearest" neighbor around 5-6 angstroms and a second shell around 11 angstroms.
ResidueNumber |
Distance(Å) |
Variants |
1355 |
14.7 |
|
1356 |
14.2 |
|
1357 |
13.7 |
A1357V |
1358 |
13.2 |
|
1359 |
12.6 |
|
1360 |
12 |
|
1361 |
11.4 |
|
1362 |
10.7 |
|
1363 |
10.1 |
|
1364 |
9.3 |
|
1365 |
8.5 |
|
1366 |
7.6 |
|
1367 |
6.6 |
|
1368 |
5.4 |
|
1369 |
3.8 |
|
1371 |
3.8 |
|
1372 |
5.4 |
|
1373 |
6.6 |
|
1374 |
7.6 |
|
1375 |
8.5 |
|
1376 |
9.3 |
|
1377 |
10.1 |
|
1378 |
10.7 |
V1378M |
1379 |
11.4 |
|
1380 |
12 |
N1380K N1380K p.N1380del |
1381 |
12.6 |
|
1382 |
13.2 |
S1382I |
1383 |
13.7 |
|
1384 |
14.2 |
|
1385 |
14.7 |
|